Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 8-year-old boy with no significant past medical history presented to his pediatrician with 5 days of fever, diffuse abdominal pain, and pallor. The pediatrician referred the patient to the emergency department (ED), out of concern for possible malignancy. Initial vital signs indicated fever, tachypnea, and tachycardia. Physical examination was significant for marked abdominal distension, hepatosplenomegaly, and abdominal tenderness in the right upper and lower quadrants. Initial laboratory studies were notable for pancytopenia as well as an elevated erythrocyte sedimentation rate and C-reactive protein. Computed tomography (CT) of the abdomen and pelvis showed massive splenomegaly. The only significant history of travel was immigration from Albania 10 months before admission. The patient was admitted to a tertiary care children's hospital and was evaluated by hematology-oncology, infectious disease, genetics, and rheumatology subspecialty teams. Our multidisciplinary panel of experts will discuss the evaluation of pancytopenia with apparent multiorgan involvement and the diagnosis and appropriate management of a rare disease.
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PMID:An 8-Year-Old Boy With Fever, Splenomegaly, and Pancytopenia. 3253 92

BACKGROUND This case report describes rare disease entities with possible associations that include relapsing polychondritis, a rare disease with systemic manifestations characterized by bouts of inflammation in hyaline cartilage in multiple body sites, and hemophagocytic lymphohistiocytosis (HLH), another potentially life-threatening condition that occurs due to erratic activation of the immune system accompanied by pancytopenia. Both diseases constitute a real challenge to diagnose and treat. These entities, their associations, and treatment protocols and prognosis for them are highlighted. CASE REPORT A 16-year-old female presented with features and complications of both relapsing polychondritis (RP) and HLH including costochondritis, fever, splenomegaly, thrombocytopenia, and anemia. After admission to the intensive care unit, symptomatic management included paracetamol, intravenous fluids, prednisolone 60 mg orally, intravenous immune globlulin, and warfarin. Unfortunately, the patient developed acute myelogenous leukemia (FAB AML M5b) after a period of remission and died due to sepsis and multiorgan failure. CONCLUSIONS HLH and RP are two rare diseases that can present together. Whether this malignant process (AML) is a cause or a result of these diseases is unknown. In the case presented here, the patient developed features of AML after a period of remission from RP and HLH. This case report may provide perspective on diagnosis and treatment for clinicians faced with similar patients.
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PMID:Hemophagocytic Lymphohistiocytosis and Relapsing Polychondritis with Acute Myelogenous Leukemia: Case Report and Review of the Literature. 3281 31

Autoimmune polyglandular syndrome (APS) is a rare disease that is characterized by autoimmune reactions to multiple endocrine and non-endocrine organs, which can be divided into four main types. The principal manifestations of APS-3 are autoimmune thyroid disease and other autoimmune diseases, such as type 1 diabetes, atrophic gastritis, pernicious anemia, vitiligo, alopecia, and myasthenia gravis, but not Addison's disease or hypoparathyroidism. Here we report a case demonstrating the rare coexistence of growth hormone deficiency and hyperthyroidism with sexual dysgenesis, secondary amenorrhea, cardiomegaly, splenomegaly, hypoproteinemia, pleural effusion, seroperitoneum, pericardial effusion, anasarca, osteoporosis, vitamin D deficiency, iron-deficiency anemia, poor blood coagulation, leucocytopenia, peripheral neuropathy, hyperuricemia, ichthyosis, tinea cruris, and onychomycosis.
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PMID:A rare case of coexistence of autoimmune polyglandular syndrome type 3 with growth hormone deficiency and hyperthyroidism in a patient with pseudo-Turner's syndrome. 3304 97

We herein report a case of aortitis induced by granulocyte colony-stimulating factor (G-CSF) that coincided with lung injury, splenomegaly, and cutaneous manifestations during treatment for recurrent extraosseous mucinous chondrosarcoma. Computed tomography revealed large-vessel vasculitis, splenomegaly, and pulmonary interstitial changes. Treatment with prednisolone was successful. Because sarcoma is a rare disease, this case is valuable for showing clinicians that G-CSF preparations could cause aortitis regardless of the patient's underlying diseases or therapeutic pharmacological backgrounds.
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PMID:Granulocyte Colony-Stimulating Factor-Induced Aortitis with Lung Injury, Splenomegaly, and a Rash During Treatment for Recurrent Extraosseous Mucinous Chondrosarcoma. 3319 26


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